Pregnant after 35

Question About Chromosome Tests

Hi all!  I'm 42 and SHOCKED to find out we are pregnant.  Due to medical issues we did not think pregnancy was possible.  We are so excited but it's also very early.  We're only in the 5th week.  We hope to be able to see the heartbeat next week at our u/s.  That will be a big relief.  Our high-risk OB said that our chance of miscarrage will decrease significantly once we see the heartbeat.

The next hurdle seems to be passing chromosome testing.  Could y'all tell me what tests are done, when they are done, and what they are testing for?  I know being 42 we have an increased risk of issues but don't know how much that risk is increased or for what disorders.  Also, any information on how the tests are conducted would be appreciated.

Thank you!

Re: Question About Chromosome Tests

  • Hi, I had the NT scan and bloodwork. My scan was great but the bloodwork showed and increase risk of Down Syndrome (T21). My risk was 1:74 and I am 40. I had the amnio done. The results came back normal. Good luck with any testing you decide.

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  • I am 41 an opted to bypass the NT and went directly to the CVS since that gave absolute results instead of just a risk.  It differs from the amino in that you do it earlier (I think between 11-13 weeks), as opposed to later for amino (in second tri).  The one thing the CVS doesn't test for is neural tube defects (I.e. spina bifida) but we did the afp blood test for that. Plus we had no family history of it, and it was more important to me to know as early as possible if everything was ok so I could breathe easier or plan appropriately.  My peri has been doing the CVS for 20 years so while statistically there is a higher risk of m/c than an amino (though still very small), I was comfortable with his vast experience and track record.
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  • The tests, whichever you do, are looking for chromosomal problems like Downs Syndrome (aka Trisomy 21), but also some other trisomies (meaning, a third, extra chromosome) that cause defects or, in worst case scenarios, are incompatible with life.  As folks above have noted, there are less invasive screening tests, like blood draws and scans, which will give you your odds, but they are not diagnostic.  The CVS involves testing a tiny part of the placenta, the villi, while the amnio examines the amniotic fluid. Both of those tests are invasive (the CVS is done either through the cervix with a small tube or through the abdomen with a needle, while the amnio is done with a needle through the abdomen.  Both involve some risk, which goes down with an experienced practitioner. Lots of people opt to do a screening first and then fit in a CVS, if there is time, or an amnio later, if the screening numbers make them anxious. Others, like myself, go right for the earlier CVS in order to get certainty. It's a very personal decision. Your doctor should be able to provide you with lots more information so you can make the one that is right for you.  Congrats and good luck!

    me - 41 (dx: DOR); DH - 53 (no problems); 7/18/09 - married!; 8/4/09 - BFP on first (real)try; 9/14/09 - missed m/c; 9/15/09 - d&c; 11/09 - 3/10 - 4 natural cycles = BFN; 4/10 - dx hyperthyroidism caused by Graves' disease; 6/10 - thyroidectomy; 7/10 - 12/10 - 1 natural and 5 medicated IUI cycles = BFN; 1/11 - new RE; dx low ovarian reserve (AMH .42; 1/26/11 -- BFP (ectopic) from IUI #6; methotrexate 2/10/11; 6/2/11 - IVF #1 = BFN; 9/12/11 - prescreening for DE; 9/15/11 - IUI #7 (unmedicated)= BFN; 11/8 - begin DE cycle (shared risk program); 12/5 - ER (5 eggs/4 mature/3 fertilized/2 left by day 5) 12/10 - ET of one 1BB blast (expanded, "fair" quality), none to freeze; 12/22 - totally shocked by +hpt; beta #1 = 413; #2 = 3952 2/14 - CVS reveals a healthy baby girl! EDD: 8/27/12 DD born 8/31/12, 10 lbs 10 oz and perfect in every way. 
  • I had the MaternitT21 test.  I highly recommend talking with a genetic counselor, if possible.  There are so many tests that can be done, and risk is very individualized based on family history.  Although I am a physician and have some background knowledge, I found the genetic counselor very helpful.
    DS born 8/8/09 and DD born 6/12/12.
  • steverstever member
    I'm 38 now and was 35 with DS, but I had the NT and AFP with both pregnancies. If my umber caused concern I would have had an amnio.
  • Thanks for the responses!  I've got more questions for you!

    It looks like you can get the MaterniT21 and/or Verifi bloodwork around week 10 -- those give you a risk but not a definitive result.  NT scan (noninvasive) can be done between weeks 11-14.  This also only give you a risk ratio and not a definitive result.

      The CVS (invasive) can be done around 11-12 weeks and gives a definitive result.  Amnio (invasive) can be done around 16 weeks and gives a definitive result.

    Stever -- you mentioned you did an AFP test.  What is this and what disorders does it look for?  I haven't heard of this test.

    Are these all the prenatal tests that we need to know about?

    If you only do the MaterniT21 or Verifi and the NT scan, do they test for all things that the CVS or amnio tests for?  I understand you will only get a risk ratio and not a definitive result but does the CVS or amnio test for more disorders?  In other words, if you do the MaterniT21 or Verifi and the NT scan and your risk is really low is there a benefit to doing the CVS or amnio other than a definitive result?

     Also, who does the CVS?  Is it your OB or another type of doctor?  What questions do you need to ask to make sure this doctor is the best to do the procedure, i.e. how many procedures has he/she done, how many led to m/c?  Anything else?

    Do these early tests tell you the gender of the baby?  If not, when do you usually find that out?

    Thank you!  I really appreciate your input.

  • I'm not 100% positive about this, but I know the CVS does test for just about every chromosomal abnormality they could possibly find on all 23 chromosomes, as does the amnio -- I don't think the Verify or MaterniT21 does that.  The AFP is a blood test for spina bifida; (the NT scan also looks visually for spina bifida).  If you go for the CVS, which does not test for spina bifida, then you get the AFP test a little later (I did this); however, generally the CVS also includes a scan that is basically the same as what you get with an NT scan (which stands for "neural tube," which is what the AFP test looks for -- neural tube defects -- albeit via the blood rather than visually).  When I had my CVS done, I asked the ultrasound tech to measure the neural tube just as would have been done with the NT scan, so I had some reassurance on that front a number of weeks before the AFP blood test.

    The advantage to the CVS or amnio is absolutely the definitive answer (they are something like 99% accurate).  It's all about what you are comfortable with.  In terms of which doctors do what, it depends on what your OB specializes in, but I think generally the CVS at least is done by a specialist in MFM (maternal fetal medicine).  Oh, and: the CVS and the amnio can tell you the sex of the baby; the blood tests do not, as far as I know.

    You definitely want to know the overall m/c statistics of wherever you get the invasive testing done if you go that route.  The amnio procedure has been around a long time now and the risk is really low, like 1:1400 or even better  nationally, but some folks aren't comfortable with that (which I totally understand).  But you will get better answers to these questions by specifically asking your doctor about it, not us.  One problem with the CVS/miscarriage statistics is that since the CVS can be done at 11-12 weeks, as you note, which is *also* when many first trimester miscarriages happen, it can be very difficult to know if the CVS is in fact to blame when/if a m/c happens afterwards. There is a woman on the TTC+35 board who is pretty sure her own pregnancy ended at 16 weeks because of complications following a CVS, which scared me quite a bit, but I went forward anyway and it was totally fine -- no bleeding, no cramping, no problems.

    Other prenatal testing will include, by 28 weeks, testing for gestational diabetes, but that's standard for all pregnancies in the US these days -- but that's not invasive, it's just disgusting (you have to drink 50g of glucose and then they test your blood sugar levels an hour later; if you fail, you have to fast and then drink 100g of glucose and they test your blood over a three-hour period). There is also usually a 20-week anatomy scan to check on the baby's growth and so forth (another way to learn the sex other than invasive testing).

    For what it's worth, the genetic counselor I spoke with was not a big fan of the MaterniT21 test -- she said that she felt (and this was just her opinion, so please take it that way) that the company that makes it was being a little unethical by charging insurance companies the exact same price as a CVS or amnio, but without providing the same kind of definitive result.  That said, lots of people seem to be heading in that direction, and I completely understand why.  I was quite anxious about getting the CVS done even though I was having it done with a very experienced practitioner....but it was worth it to me even though I already knew our risk was very low (we used the egg of a 27-year-old donor to get pregnant).  The amnio *can* be done as early as 16 weeks, but not always -- it depends on whether your amniotic sac is ready for it (two different membranes have to have fused together to allow them to do it).  And then with both the CVS and the amnio you sometimes have to wait as much as 2 weeks for the results (you can get 24 hr preliminary results with the CVS, but only if they get a good enough sample -- which they did not in my case, so it was a full 14 days for me).  What this means is that if you want definitive results, but wait for the amnio, it could happen that the earliest you get your results is 18 weeks.  By which point you will be nearly halfway through your pregnancy and may well have felt the baby move.  And *if* you are someone who would terminate in the case of chromosomal abnormality, that could make things even harder.  That's why I chose the CVS over the amnio -- to know for sure weeks earlier.  It's made a huge difference to my anxiety level during my pregnancy.

    Hope that helps.

    me - 41 (dx: DOR); DH - 53 (no problems); 7/18/09 - married!; 8/4/09 - BFP on first (real)try; 9/14/09 - missed m/c; 9/15/09 - d&c; 11/09 - 3/10 - 4 natural cycles = BFN; 4/10 - dx hyperthyroidism caused by Graves' disease; 6/10 - thyroidectomy; 7/10 - 12/10 - 1 natural and 5 medicated IUI cycles = BFN; 1/11 - new RE; dx low ovarian reserve (AMH .42; 1/26/11 -- BFP (ectopic) from IUI #6; methotrexate 2/10/11; 6/2/11 - IVF #1 = BFN; 9/12/11 - prescreening for DE; 9/15/11 - IUI #7 (unmedicated)= BFN; 11/8 - begin DE cycle (shared risk program); 12/5 - ER (5 eggs/4 mature/3 fertilized/2 left by day 5) 12/10 - ET of one 1BB blast (expanded, "fair" quality), none to freeze; 12/22 - totally shocked by +hpt; beta #1 = 413; #2 = 3952 2/14 - CVS reveals a healthy baby girl! EDD: 8/27/12 DD born 8/31/12, 10 lbs 10 oz and perfect in every way. 
  • imagelhcooper:

    I'm not 100% positive about this, but I know the CVS does test for just about every chromosomal abnormality they could possibly find on all 23 chromosomes, as does the amnio -- I don't think the Verify or MaterniT21 does that.  The AFP is a blood test for spina bifida; (the NT scan also looks visually for spina bifida).  If you go for the CVS, which does not test for spina bifida, then you get the AFP test a little later (I did this); however, generally the CVS also includes a scan that is basically the same as what you get with an NT scan (which stands for "neural tube," which is what the AFP test looks for -- neural tube defects -- albeit via the blood rather than visually).  When I had my CVS done, I asked the ultrasound tech to measure the neural tube just as would have been done with the NT scan, so I had some reassurance on that front a number of weeks before the AFP blood test.

    The advantage to the CVS or amnio is absolutely the definitive answer (they are something like 99% accurate).  It's all about what you are comfortable with.  In terms of which doctors do what, it depends on what your OB specializes in, but I think generally the CVS at least is done by a specialist in MFM (maternal fetal medicine).  Oh, and: the CVS and the amnio can tell you the sex of the baby; the blood tests do not, as far as I know.

    You definitely want to know the overall m/c statistics of wherever you get the invasive testing done if you go that route.  The amnio procedure has been around a long time now and the risk is really low, like 1:1400 or even better  nationally, but some folks aren't comfortable with that (which I totally understand).  But you will get better answers to these questions by specifically asking your doctor about it, not us.  One problem with the CVS/miscarriage statistics is that since the CVS can be done at 11-12 weeks, as you note, which is *also* when many first trimester miscarriages happen, it can be very difficult to know if the CVS is in fact to blame when/if a m/c happens afterwards. There is a woman on the TTC+35 board who is pretty sure her own pregnancy ended at 16 weeks because of complications following a CVS, which scared me quite a bit, but I went forward anyway and it was totally fine -- no bleeding, no cramping, no problems.

    Other prenatal testing will include, by 28 weeks, testing for gestational diabetes, but that's standard for all pregnancies in the US these days -- but that's not invasive, it's just disgusting (you have to drink 50g of glucose and then they test your blood sugar levels an hour later; if you fail, you have to fast and then drink 100g of glucose and they test your blood over a three-hour period). There is also usually a 20-week anatomy scan to check on the baby's growth and so forth (another way to learn the sex other than invasive testing).

    For what it's worth, the genetic counselor I spoke with was not a big fan of the MaterniT21 test -- she said that she felt (and this was just her opinion, so please take it that way) that the company that makes it was being a little unethical by charging insurance companies the exact same price as a CVS or amnio, but without providing the same kind of definitive result.  That said, lots of people seem to be heading in that direction, and I completely understand why.  I was quite anxious about getting the CVS done even though I was having it done with a very experienced practitioner....but it was worth it to me even though I already knew our risk was very low (we used the egg of a 27-year-old donor to get pregnant).  The amnio *can* be done as early as 16 weeks, but not always -- it depends on whether your amniotic sac is ready for it (two different membranes have to have fused together to allow them to do it).  And then with both the CVS and the amnio you sometimes have to wait as much as 2 weeks for the results (you can get 24 hr preliminary results with the CVS, but only if they get a good enough sample -- which they did not in my case, so it was a full 14 days for me).  What this means is that if you want definitive results, but wait for the amnio, it could happen that the earliest you get your results is 18 weeks.  By which point you will be nearly halfway through your pregnancy and may well have felt the baby move.  And *if* you are someone who would terminate in the case of chromosomal abnormality, that could make things even harder.  That's why I chose the CVS over the amnio -- to know for sure weeks earlier.  It's made a huge difference to my anxiety level during my pregnancy.

    Hope that helps.

     

    So helpful!!  Thank you!

  • imagelhcooper:

    The tests, whichever you do, are looking for chromosomal problems like Downs Syndrome (aka Trisomy 21), but also some other trisomies (meaning, a third, extra chromosome) that cause defects or, in worst case scenarios, are incompatible with life.  As folks above have noted, there are less invasive screening tests, like blood draws and scans, which will give you your odds, but they are not diagnostic.  The CVS involves testing a tiny part of the placenta, the villi, while the amnio examines the amniotic fluid. Both of those tests are invasive (the CVS is done either through the cervix with a small tube or through the abdomen with a needle, while the amnio is done with a needle through the abdomen.  Both involve some risk, which goes down with an experienced practitioner. Lots of people opt to do a screening first and then fit in a CVS, if there is time, or an amnio later, if the screening numbers make them anxious. Others, like myself, go right for the earlier CVS in order to get certainty. It's a very personal decision. Your doctor should be able to provide you with lots more information so you can make the one that is right for you.  Congrats and good luck!

    ------------------------------------------------------------------------------------------------------------------------

     

    Exactly what she said! I am 41 so I did the CVS and they went through my abdomen due to the position of my placenta. It was over in minutes. I drove two hours to go to a doctor who specializes in them. He has done over 28,000 so I felt very comfortable. I also paid a little extra to find out in two days instead of 8-10, Good luck!!

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